Associated Papers
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.
Kilic H et al.
Acta Neurologica Belgica, 2021
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
Dehnavi AZ et al.
Human Genomics, 2021
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